Evidence in a human fetus of micrognathia and cleft lip as potential effects of early cytomegalovirus infection

Human cytomegalovirus (CMV) infection is one of the most frequent congenital infections, affecting 0.2-2% of all live births. Approximately 30-50% of pregnant women are seronegative at the beginning of pregnancy, and 1% will develop primary infection during pregnancy. Fetal CMV infection is associated with a phenotype that has been described to include central nervous system anomalies, hydrops fetalis and oligohydramnios. Impaired first branchial arch development as well as orofacial clefts after CMV infection have been shown in animal models. We present a case in which ultrasound examination at 29 weeks of gestation revealed marked micrognathia and slight cleft lip as well as multiple signs of fetal infection. We focus on the detection of fetal face and skull anomalies.